Canonical Allele Identifier: CA565358230

Gene: DSP

Linked Data

• dbSNP Id: rs750188089
• gnomAD v2: 6-7585967-G-GCTCCGGCTCCCGCTCGGGC
• gnomAD v4: 6-7585734-G-GCTCCGGCTCCCGCTCGGGC
• MyVariant Identifiers: chr6:g.7585968_7585979delinsCTCCGGCTCCCGCTCGGGCTCCCGCTCCGGC (hg19) ; chr6:g.7585735_7585746delinsCTCCGGCTCCCGCTCGGGCTCCCGCTCCGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585734_7585735insCTCCGGCTCCCGCTCGGGC , CM000668.2:g.7585734_7585735insCTCCGGCTCCCGCTCGGGC	GRCh38
NC_000006.11:g.7585967_7585968insCTCCGGCTCCCGCTCGGGC , CM000668.1:g.7585967_7585968insCTCCGGCTCCCGCTCGGGC	GRCh37
NC_000006.10:g.7530966_7530967insCTCCGGCTCCCGCTCGGGC	NCBI36
NG_008803.1:g.49098_49099insCTCCGGCTCCCGCTCGGGC , LRG_423:g.49098_49099insCTCCGGCTCCCGCTCGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7143_7144insCTCCGGCTCCCGCTCGGGC	ENSP00000518230.1:p.Ser2382LeufsTer33
ENST00000379802.8:c.8472_8473insCTCCGGCTCCCGCTCGGGC MANE Select	ENSP00000369129.3:p.Ser2825LeufsTer33
ENST00000379802.7:c.8472_8473insCTCCGGCTCCCGCTCGGGC	ENSP00000369129.3:p.Ser2825LeufsTer33
ENST00000418664.2:c.6675_6676insCTCCGGCTCCCGCTCGGGC	ENSP00000396591.2:p.Ser2226LeufsTer33
NM_001008844.1:c.6675_6676insCTCCGGCTCCCGCTCGGGC	NP_001008844.1:p.Ser2226LeufsTer33
NM_004415.2:c.8472_8473insCTCCGGCTCCCGCTCGGGC , LRG_423t1:c.8472_8473insCTCCGGCTCCCGCTCGGGC	NP_004406.2:p.Ser2825LeufsTer33
XM_011514323.1:c.7143_7144insCTCCGGCTCCCGCTCGGGC	XP_011512625.1:p.Ser2382LeufsTer33
NM_001008844.2:c.6675_6676insCTCCGGCTCCCGCTCGGGC	NP_001008844.1:p.Ser2226LeufsTer33
NM_001319034.1:c.7143_7144insCTCCGGCTCCCGCTCGGGC	NP_001305963.1:p.Ser2382LeufsTer33
NM_004415.3:c.8472_8473insCTCCGGCTCCCGCTCGGGC	NP_004406.2:p.Ser2825LeufsTer33
NM_004415.4:c.8472_8473insCTCCGGCTCCCGCTCGGGC MANE Select	NP_004406.2:p.Ser2825LeufsTer33
NM_001008844.3:c.6675_6676insCTCCGGCTCCCGCTCGGGC	NP_001008844.1:p.Ser2226LeufsTer33
NM_001319034.2:c.7143_7144insCTCCGGCTCCCGCTCGGGC	NP_001305963.1:p.Ser2382LeufsTer33